Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085307709
rs1085307709
COL4A1
0.882 0.120 13 110170574 missense variant C/T snv
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		0.010 1.000 1 2015 2015
dbSNP: rs113994109
rs113994109
COL4A1
0.827 0.200 13 110179370 missense variant C/T snv
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		0.010 1.000 1 2016 2016
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		0.010 1.000 1 1998 1998